Also known as
SLC5A5 is a gene that codes for a protein called the sodium-dependent multivitamin transporter (SMVT). SMVT is a membrane protein that transports certain vitamins, including biotin and pantothenate, into cells. Biotin and pantothenate are important for various metabolic processes in the body and are required for the proper functioning of enzymes that play a role in energy production, the metabolism of carbohydrates, fats, and proteins, and the synthesis of hormones and neurotransmitters. Mutations in the SLC5A5 gene can lead to biotinidase deficiency, a rare inherited disorder that affects the metabolism of biotin, and pantothenate kinase-associated neurodegeneration (PKAN), a rare inherited disorder that affects the metabolism of pantothenate and can cause problems with movement and cognitive function.
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